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Pelizaeus-Merzbacher病为X-连锁隐性遗传的脑白质营养不良病,是Xq13-q22染色体上蛋白脂蛋白基因突变所致,最常见的突变是基因复制。临床疾病谱有严重的新生儿型、相对良性的成人型及2型痉挛性截瘫。除蛋白脂蛋白异常外,还伴有中枢神经系统其它髓鞘蛋白的改变,包括髓鞘碱性蛋白,髓鞘相关糖蛋白等。异常的蛋白脂蛋白影响少突胶质细胞的蛋白功能导致细胞凋亡。一些自发和蛋白脂蛋白基因突变或缺失的转基因动物模型促进进一步认识PMD脱髓鞘病变、髓鞘形成和修补。
Pelizaeus-Merzbacher’s disease is an X-linked recessive leukodystrophy that is caused by mutations in the proteolipid protein gene on chromosome Xq13-q22. The most common mutation is gene duplication. Clinical disease spectrum has severe neonatal type, relatively benign adult and type 2 spastic paraplegia. In addition to abnormal protein lipoprotein, but also accompanied by changes in other central nervous system myelin proteins, including myelin basic protein, myelin related glycoproteins. Abnormal proteolipoproteins affect oligodendrocyte protein function leading to apoptosis. Some transgenic animal models of spontaneous and proteolytic lipoprotein gene mutations or deletions have contributed to further understanding of PMD demyelinating lesions, myelination and repair.